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  • Spinal Muscular Atrophy

    Carrier Screening and Prenatal Diagnosis

    Your Partner for Genetic Testing

    Integrated Genetics offers carrier screening and prenatal diagnosis for

    spinal muscular atrophy (SMA), the most common inherited cause of

    early childhood mortality.

    This test enables couples who are planning a pregnancy, or who are already

    pregnant, to determine if they are carriers and at risk of having a baby with SMA.

  • Spinal Muscular Atrophy

    Carrier Screening and Prenatal Diagnosis

    2nd Most Common Lethal Autosomal Recessive Disease After CF

    Clinical Characteristics

    Spinal Muscular Atrophy (SMA) is the most common inherited cause of early childhood mortality. It is the second most common lethal autosomal recessive disease in the U.S. after cystic fibrosis.1

    SMA has been known as congenital axonal neuropathy, arthrogryposis multiplex congenita (prenatal SMA), Werdnig-Hoffman disease (SMA type I), Dubowitz disease (SMA type II) and Kugelberg-Welander disease (SMA type III).

    SMA is characterized by the progressive degeneration of the lower motor neurons, muscle weakness and, in the most common type, respiratory failure by age two. The disease most severely affects the muscles responsible for crawling, walking, swallowing and head and neck control. Given the severity and overall frequency of this disease, the American College of Medical Genetics (ACMG) recommends SMA carrier screening be offered before conception or early in pregnancy to everyone.3

    Spinal Muscular Atrophy

    Inheritance If both parents are carriers there is a 25% chance for each child to be affected.

    Carrier Frequency

     SMA has an ~1 in 54 carrier frequency  Affects all racial and ethnic groups, and as with most genetic diseases,

    there is some ethnic variability in carrier frequencies  SMA carrier risk in people with no family history of SMA  Caucasian 1 in 47  Asian Indian 1 in 52  Asian 1 in 59  Ashkenazi Jewish 1 in 67  Hispanic 1 in 68  African American 1 in 72

    Incidence Has an estimated incidence of 1 in 11,000 births

    Carrier frequencies/detection rates are calculated based on analysis of allele frequencies among >72,000 individuals.2

    www.integratedgenetics.com

  • Every day a child who will develop SMA is born in the United States.

    Integrated Genetics (800) 848-4436

    SMA Type Age of Onset Typical Life Span Key Clinical Characteristics/Milestones

    Prenatal Prenatal

  •  Approximately 95% detection rate, varies by ethnicity2 (see table below)

     Fast 5–8 day turnaround time

     Prenatal diagnosis by CVS or amniocentesis

     Expert geneticists available for physician consultation

    To learn more about SMA testing, please visit www.mytestingoptions.com and www.integratedgenetics.com or call (800) 848-4436.

    Additional SMA Resources:

     GeneTests: geneclinics.org/profiles/sma

     Claire Altman Heine Foundation: www.preventsma.org

     Families of Spinal Muscular Atrophy: www.fsma.org

    RefeRenCeS:

    1) Smith, M. et al., Population screening and cascade testing for carriers of SMA. Euro J Hum Genet 2007; 15:759-766. 2) Sugarman EA. et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens.

    Eur J Hum Genet 2012; 20:27-32. 3) Prior, T.W., ACMG Practice Guidelines: Carrier screening for spinal muscular atrophy. Genet Med 2008; 10:840-842. 4) Meldrum, C. et al., Spinal muscular atrophy genetic counseling access and genetic knowledge: Parents’ Perspectives. J Child Neurol 2007; 22:1019-1026. 5) Prior, T.W. and Russman, B.S., Spinal Muscular Atrophy. www.ncbi.nlm.nih.gov/books/NBK1352/

    Accurate, Fast Testing for SMA

    Risk Reduction for Individuals with No Family History of SMA

    The Most Common Inherited Cause of Early Childhood Mortality

    ethnicity Detection Rate A Priori Carrier Risk

    Reduced Carrier Risk for 2 Copy Result

    Reduced Carrier Risk for ≥ 3 Copy Result

    Caucasian 94.8% 1:47 1:834 1:5,600

    Ashkenazi Jewish 90.5% 1:67 1:611 1:5,400

    Asian 93.3% 1:59 1:806 1:5,600

    Hispanic 90.0% 1:68 1:579 1:5,400

    Asian Indian 90.2% 1:52 1:443 1:5,400

    African American 70.5% 1:72 1:130 1:4,200

    Mixed Ethnicities For counseling purposes, consider using the ethnic background with the most conservative risk.

    Carrier frequencies/detection rates are calculated based on analysis of allele frequencies among >72,000 individuals.2

    www.integratedgenetics.comwww.mytestingoptions.com

    Integrated Genetics Client Services (800) 848-4436

    ©2012 Laboratory Corporation of America® Holdings. All rights reserved. rep-066-v3-0112